Variant Results

or

or

Results for "ADAM22"

Variant Events: 15

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

ADAM22

AU2075302

chr7:
87636804-87636804

C

T

intronic

De novo

-

-

Yuen2017 G

ADAM22

13317.p1

chr7:
87607732-87607732

G

A

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ADAM22

2-1276-003

chr7:
87786863-87786863

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ADAM22

AU3874303

chr7:
87697239-87697239

A

C

intronic

De novo

-

-

Yuen2017 G

ADAM22

AU3761301

chr7:
87662282-87662282

T

C

intronic

De novo

-

-

Yuen2017 G

ADAM22

AU011604

chr7:
87734864-87734864

C

A

intronic

De novo

-

-

Yuen2017 G

ADAM22

PN400347

chr7:
87759715-87759715

C

T

exonic

Unknown

nonsynonymous SNV

NM_004194
NM_016351
NM_021721
NM_021722
NM_021723

c.C766T
c.C766T
c.C766T
c.C766T
c.C766T

p.R256W
p.R256W
p.R256W
p.R256W
p.R256W

33.0

Leblond2019 E

ADAM22

AU011604

chr7:
87735754-87735754

G

C

intronic

De novo

-

-

Yuen2017 G

ADAM22

1-0191-003

chr7:
87691030-87691030

G

T

intronic

De novo

-

-

Yuen2017 G

ADAM22

AU3632301

chr7:
87766254-87766254

G

A

intronic

De novo

-

-

Yuen2017 G

ADAM22

13317_p1

chr7:
87607732-87607732

G

A

intronic

De novo

-

-

Fu2022 E

ADAM22

10C102280

chr7:
87760687-87760687

G

A

exonic

De novo

nonsynonymous SNV

NM_004194
NM_016351
NM_021721
NM_021722
NM_021723

c.G929A
c.G929A
c.G929A
c.G929A
c.G929A

p.R310H
p.R310H
p.R310H
p.R310H
p.R310H

16.18

Neale2012 E

ADAM22

AU3703302

chr7:
87576552-87576552

A

G

intronic

De novo

-

-

Yuen2017 G

ADAM22

1360JS0028

chr7:
87760687-87760687

G

A

exonic

De novo

nonsynonymous SNV

NM_004194
NM_016351
NM_021721
NM_021722
NM_021723

c.G929A
c.G929A
c.G929A
c.G929A
c.G929A

p.R310H
p.R310H
p.R310H
p.R310H
p.R310H

16.18

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

ADAM22

7-0175-003

chr7:
87626554-87626554

T

C

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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